ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1030-5C>G

dbSNP: rs1588323218
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000792019 SCV000931291 uncertain significance Tuberous sclerosis 1 2022-05-18 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 10 of the TSC1 gene. It does not directly change the encoded amino acid sequence of the TSC1 protein. This variant has not been reported in the literature in individuals affected with TSC1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 639266).
Baylor Genetics RCV003472334 SCV004204432 uncertain significance Isolated focal cortical dysplasia type II 2023-09-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001558 SCV004829509 uncertain significance Tuberous sclerosis syndrome 2023-05-16 criteria provided, single submitter clinical testing This variant causes a C to G nucleotide substitution at the -5 position of intron 10 of the TSC1 gene. Splice site prediction tools are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TSC1-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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